Linked Data
ClinVar Variation Id:
422387
ClinVar RCV Id:
RCV000485680
dbSNP Id:
rs1064795745
gnomAD v4:
8-13086342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13086342G>A , CM000670.2:g.13086342G>A | GRCh38 |
| NC_000008.10:g.12943851G>A , CM000670.1:g.12943851G>A | GRCh37 |
| NC_000008.9:g.12988222G>A | NCBI36 |
| NG_015998.1:g.433579C>T | |
| NG_015998.2:g.523264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.4414C>T MANE Select | ENSP00000276297.4:p.Pro1472Ser | |
| ENST00000276297.8:c.4414C>T | ENSP00000276297.4:p.Pro1472Ser | |
| ENST00000358919.6:c.3103C>T | ENSP00000351797.2:p.Pro1035Ser | |
| ENST00000510318.5:n.1599C>T | ||
| ENST00000512044.6:c.3205C>T | ENSP00000422595.2:p.Pro1069Ser | |
| ENST00000520226.5:c.2881C>T | ENSP00000428028.1:p.Pro961Ser | |
| ENST00000521730.1:n.375C>T | ||
| NM_001164271.1:c.2881C>T | NP_001157743.1:p.Pro961Ser | |
| NM_001316668.1:c.3205C>T | NP_001303597.1:p.Pro1069Ser | |
| NM_006094.4:c.3103C>T | NP_006085.2:p.Pro1035Ser | |
| NM_182643.2:c.4414C>T | NP_872584.2:p.Pro1472Ser | |
| XM_005273374.1:c.4414C>T | XP_005273431.1:p.Pro1472Ser | |
| NM_001348081.1:c.4414C>T | NP_001335010.1:p.Pro1472Ser | |
| NM_001348082.1:c.2881C>T | NP_001335011.1:p.Pro961Ser | |
| NM_001348083.1:c.2881C>T | NP_001335012.1:p.Pro961Ser | |
| NM_001348084.1:c.2881C>T | NP_001335013.1:p.Pro961Ser | |
| NM_182643.3:c.4414C>T MANE Select | NP_872584.2:p.Pro1472Ser | |
| NM_001316668.2:c.3205C>T | NP_001303597.1:p.Pro1069Ser | |
| NM_001348081.2:c.4414C>T | NP_001335010.1:p.Pro1472Ser | |
| NM_001348082.2:c.2881C>T | NP_001335011.1:p.Pro961Ser | |
| NM_001348084.2:c.2881C>T | NP_001335013.1:p.Pro961Ser | |
| NM_006094.5:c.3103C>T | NP_006085.2:p.Pro1035Ser | |
| NM_001164271.2:c.2881C>T | NP_001157743.1:p.Pro961Ser |